Activating BRAF mutation in sclerosing mucoepidermoid carcinoma with eosinophilia of the thyroid gland: two case reports and review of the literature
| Autor: | Sumitha S. Hathiramani, Shirley Yan, Jasmine S. Sukumar, Jyoti P. Balani, Darshana Purohit, Senthil Sukumar, Brian J. Welch |
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| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Proto-Oncogene Proteins B-raf Pathology medicine.medical_specialty endocrine system diseases medicine.medical_treatment lcsh:Medicine Antineoplastic Agents Case Report Thyroid cancer BRAF Thyroid carcinoma 03 medical and health sciences 0302 clinical medicine Surgical oncology Mucoepidermoid carcinoma hemic and lymphatic diseases Eosinophilia medicine Biomarkers Tumor Humans Thyroid Neoplasms Aged business.industry lcsh:R Thyroid Thyroidectomy Sclerosing mucoepidermoid carcinoma with eosinophilia General Medicine medicine.disease Kidney Neoplasms stomatognathic diseases 030104 developmental biology medicine.anatomical_structure Treatment Outcome 030220 oncology & carcinogenesis Mutation Renal metastases Carcinoma Mucoepidermoid Female medicine.symptom business V600E |
| Zdroj: | Journal of Medical Case Reports Journal of Medical Case Reports, Vol 13, Iss 1, Pp 1-10 (2019) |
| ISSN: | 1752-1947 |
| Popis: | BackgroundSclerosing mucoepidermoid carcinoma with eosinophilia is a rare form of thyroid carcinoma. The underlying molecular mechanisms of sclerosing mucoepidermoid carcinoma with eosinophilia tumorigenesis remain unknown.Case presentationWe present two cases of sclerosing mucoepidermoid carcinoma with eosinophilia, both with a concurrent papillary thyroid carcinoma. Patient 1, a 70-year-old Caucasian woman, presented with sclerosing mucoepidermoid carcinoma with eosinophilia with distant renal metastasis and coexisting papillary thyroid carcinoma. Patient 2, a 74-year-old Caucasian woman with a remote history of thyroid cancer treated with thyroidectomy, presented with locoregionally invasive sclerosing mucoepidermoid carcinoma with eosinophilia and recurrent papillary thyroid carcinoma in the thyroid bed.BRAFmutation studies were performed on the sclerosing mucoepidermoid carcinoma with eosinophilia tumors. In both cases, sclerosing mucoepidermoid carcinoma with eosinophilia was positive for theBRAFV600E mutation by polymerase chain reaction. Patient 1 is the first reported case of sclerosing mucoepidermoid carcinoma with eosinophilia with renal metastasis, to the best of our knowledge.ConclusionsOur findings suggest, for the first time, to our knowledge, involvement of the RAS-RAF-MEK-ERK signaling pathway in the pathogenesis of sclerosing mucoepidermoid carcinoma with eosinophilia. Thus, BRAF inhibitors may prove to be a useful targeted medical therapy in the treatment of a subset of patients with aggressive sclerosing mucoepidermoid carcinoma with eosinophilia tumors who exhibitBRAFactivating mutation. |
| Databáze: | OpenAIRE |
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